Deborah Krakow

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 17

Top Venues

American journal of medical genetics. Part A

Prenatal diagnosis

Proceedings of the National Academy of Sciences of the United States of America

Science translational medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K White, Heather M McLaughlin, Guillermo Seratti
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. American journal of medical genetics. Part A (2024)
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K White, Heather M McLaughlin, Guillermo Seratti
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. American journal of medical genetics. Part A 194 (9) (2024)
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K White, Heather M McLaughlin, Guillermo Seratti
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date. American journal of medical genetics. Part A 194 (9) (2024)
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Ivan Duran, Jennifer Zieba, Fabiana Csukasi, Jorge H Martin, Davis Wachtell, Maya Barad, Brian Dawson, Bohumil Fafilek, Christina M Jacobsen, Catherine G Ambrose, Daniel H Cohn, Pavel Krejci, Brendan H Lee, Deborah Krakow
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (4) (2022)
Takeshi Kimura, Michaela Kunova Bosakova, Yosuke Nonaka, Eva Hruba, Kie Yasuda, Satoshi Futakawa, Takuo Kubota, Bohumil Fafilek, Tomas Gregor, Sara P Abraham, Regina Gomolkova, Silvie Belaskova, Martin Pesl, Fabiana Csukasi, Ivan Duran, Masatoshi Fujiwara, Michaela Kavkova, Tomas Zikmund, Josef Kaiser, Marcela Buchtová, Deborah Krakow, Yoshikazu Nakamura, Keiichi Ozono, Pavel Krejci
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice. Science translational medicine 13 (592) (2021)
Joohyun Lim, Caressa D Lietman, Matthew William Grol, Alexis Castellon, Brian Dawson, Mary Adeyeye, Jyoti Rai, MaryAnn Weis, Douglas R Keene, Ronen Schweitzer, Dongsu Park, David R Eyre, Deborah Krakow, Brendan H Lee
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta. Proceedings of the National Academy of Sciences of the United States of America 118 (25) (2021)
Ilina D Pluym, Mark Sklansky, Joyce Y Wu, Yalda Afshar, Kerry Holliman, Greggory R Devore, Ayanna Walden, Lawrence D Platt, Deborah Krakow
Fetal cardiac rhabdomyomas treated with maternal sirolimus. Prenatal diagnosis 40 (3) (2020)
Michaela Kunova Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz W Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, null null, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO molecular medicine 12 (11) (2020)
Michaela Kunova Bosakova, Alexandru Nita, Tomas Gregor, Miroslav Varecha, Iva Gudernova, Bohumil Fafilek, Tomas Barta, Neha Basheer, Sara P Abraham, Lukas Balek, Marketa Tomanova, Jana Fialova Kucerova, Juraj Bosak, David Potesil, Jennifer Zieba, Jieun Song, Peter Konik, Sohyun Park, Ivan Duran, Zbynek Zdrahal, David Smajs, Gert Jansen, Zheng Fu, Hyuk Wan Ko, Ales Hampl, Lukas Trantirek, Deborah Krakow, Pavel Krejci
Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase. Proceedings of the National Academy of Sciences of the United States of America 116 (10) (2019)
Rashmi Rao, Jeffrey Gornbein, Yalda Afshar, Lawrence D Platt, Greggory R Devore, Deborah Krakow
A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio. Prenatal diagnosis 39 (3) (2019)
Fabiana Csukasi, Ivan Duran, Maya Barad, Tomas Barta, Iva Gudernova, Lukas Trantirek, Jorge H Martin, Caroline Y Kuo, Jeremy D Woods, Hane Lee, Daniel H Cohn, Pavel Krejci, Deborah Krakow
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling. Science translational medicine 10 (459) (2019)
Bohumil Fafilek, Lukas Balek, Michaela Kunova Bosakova, Miroslav Varecha, Alexandru Nita, Tomas Gregor, Iva Gudernova, Jitka Krenova, Somadri Ghosh, Martin Piskacek, Lucie Jonatova, Nicole H Cernohorsky, Jennifer T Zieba, Michal Kostas, Ellen Margrethe Haugsten, Jørgen Wesche, Christophe Erneux, Lukas Trantirek, Deborah Krakow, Pavel Krejci
The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases. Science signaling 11 (548) (2018)
Ivan Duran, Jessica Tenney, Carmen M Warren, Anna Sarukhanov, Fabiana Csukasi, Mark Skalansky, Maria L Iruela-Arispe, Deborah Krakow
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. American journal of medical genetics. Part A 176 (3) (2018)
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M Jacques, Robert Wallerstein, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia 6 (2017)
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. American journal of medical genetics. Part A 173 (9) (2017)
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American journal of medical genetics. Part A 173 (7) (2017)
Kalina Benedict, Christina S Han, Neil S Silverman, Deborah Krakow, Lawrence D Platt
Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing. Prenatal diagnosis 35 (8) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Deborah Krakow